67798003: Congenital premature fusion (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit præmatur sammenvoksning	Is a	kongenit abnorm sammenvoksning	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Premature closure of foramen ovale	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Skafocefali	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some
Premature closure of foramen ovale	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Interparietal craniosynostosis (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Parieto-occipital craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Cloverleaf skull syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Bicoronal craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Craniosynostosis syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Brachycephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Frontoparietal kraniofaciosynostose	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Interfrontal craniofaciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Unicoronal craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Baller-Gerold syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Aperts syndrom	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
velokardiofacialt syndrom	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Fronto-malar faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Antley-Bixler syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Cloverleaf skull syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Bicoronal craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Craniosynostosis syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Brachycephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Unicoronal craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
velokardiofacialt syndrom	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Acrocephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Anterior perimaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Bicoronal craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Frontoparietal kraniofaciosynostose	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Interfrontal craniofaciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Parieto-occipital craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Craniosynostosis syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Acrocephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Acrocephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Antley-Bixler syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Brachycephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Interparietal craniosynostosis (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Fronto-malar faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Cloverleaf skull syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Saethre-Chotzen syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Acrocephalosyndactyly type I	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
velokardiofacialt syndrom	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
akrocefalopolysyndaktyli	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Unicoronal craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Baller-Gerold syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	6
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Interparietal craniosynostosis (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephalosyndactyly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Nonsyndromic premature fusion of a single suture.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Nonsyndromic premature fusion of multiple sutures.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Trigonocephaly	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Jackson-Weiss syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Premature restriction of foramen ovale (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Vomero-premaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Vomero-premaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Premature closure of foramen ovale	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Closed ductus venosus	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Complete perimaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Antley-Bixler syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	7
Anterior perimaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Bicoronal craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Premature restriction of foramen ovale (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Holoprosencephaly craniosynostosis syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	6
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	6
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	9
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	7
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	12
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	7
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	6

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REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
112607017	Congenital premature fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112609019	Congenital premature closure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807561017	Congenital premature fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2510561000005118	kongenit præmatur sammenvoksning	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)